Biochemical Genetic Test: Pyruvate

Also known as:  pyruvate dehydrogenase deficiency test, pyruvate carboxylase deficiency test.

What is biochemical genetic test: pyruvate/pyruvate dehydrogenase/pyruvate carboxylase?

Pyruvate is an important compound that participates in the metabolism of carbohydrates, proteins and fats. Pyruvate dehydrogenase and pyruvate carboxylase are enzymes which enable pyruvate to play a role in the breakdown of glycogen and glucose to produce energy for cell use. Problems ( from for example a hereditary deficiency) with the process of breaking down of pyruvate limits the body’s cells abilities to produce energy, and may cause problems in early infancy or later in childhood.

What happens during the procedure?

Testing for the enzyme deficiencies may occur after birth or later, and may involve blood being drawn from a vein in the usual way, or fluid being collected from around the brain/spinal cord (cerebrospinal fluid), urine testing and /or skin or muscle tissue being collected for genetic testing.

Is any special preparation needed?

Depending on what tissue in particular is being tested, preparation will vary. Your pediatric specialist at Nicklaus Children’s Hospital will explain the tests to be performed and what preparations may be required.

What are the risk factors?

The tests performed are all thought to be safe and complications are uncommon.

Reviewed by: Jack Wolfsdorf MD.

This page was last updated on: 10/29/2018 1:54:19 PM

From the Newsdesk

Nicklaus Children's Hospital to offer new rapid genetic test
Nicklaus Children's Hospital will be one of a handful in the country to offer a fast turn-around on genome sequencing that can be a key to saving infants with rare and hard-to-diagnose genetic disorders. As seen on The Miami Herald.
Research Study: How your child's genetic makeup can impact the way he or she responds to certain medications
Enzymes are particularly important in the processing of medicines and drugs. They determine how our bodies are going to handle the medicines we take, and if those medicines are going to help us feel better or not. This research study includes testing the status of the CYP2D6 gene in children.